Disease #05650 (AI (amelogenesis imperfecta (AI)))

Official abbreviation AI
Name amelogenesis imperfecta (AI)
OMIM ID -
Inheritance -
Individuals reported having this disease 57
Phenotype entries for this disease 55
Associated with 2 genes AMELX, MMP20
Associated tissues -
Disease features -
Remarks -


Individuals

57 entries on 1 page. Showing entries 1 - 57.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00264122 FamPatII1 PubMed: O'Sullivan 2011 3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Brazil - - 0 - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis FAM20A FAM20A 1 4 Johan den Dunnen
00264123 FamPatII2 PubMed: O'Sullivan 2011 - F yes Brazil - - 0 - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis FAM20A FAM20A 1 1 Johan den Dunnen
00264124 FamPatII3 PubMed: O'Sullivan 2011 - M yes Brazil - - 0 - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis FAM20A FAM20A 1 1 Johan den Dunnen
00264125 FamPatII7 PubMed: O'Sullivan 2011 - F yes Brazil - - 0 - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis, mental retardation FAM20A FAM20A 1 1 Johan den Dunnen
00264126 Fam1 PubMed: Wang 2013 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M - - Caribbean - 0 - - AI see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis FAM20A FAM20A 1 3 Johan den Dunnen
00264127 Fam2 PubMed: Wang 2013 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes - Jordan - 0 - - AI see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis FAM20A FAM20A 2 1 Johan den Dunnen
00264128 Fam3 PubMed: Wang 2013 3-generation family, 2 affected cousins, unaffected heterozygous carrier parents/relatives F;M no - Iran - 0 - - AI see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis FAM20A FAM20A 1 2 Johan den Dunnen
00264132 Fam1 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264133 Fam2 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 2 2 Johan den Dunnen
00264134 Fam3 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 2 2 Johan den Dunnen
00264135 Fam4 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 2 Johan den Dunnen
00264136 Fam5 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264137 Fam6 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264138 Fam7 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 2 Johan den Dunnen
00264139 Fam8 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264140 Fam9 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264141 Fam10 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 2 1 Johan den Dunnen
00264142 Fam11 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 2 2 Johan den Dunnen
00264143 Fam12 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264144 Fam13 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 2 2 Johan den Dunnen
00264145 Fam14 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 1 Johan den Dunnen
00264146 Fam15 PubMed: Jaureguiberry 2012 2-generation family, 3 affected (F, 2M), unaffected parents F;M - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 1 3 Johan den Dunnen
00264147 Fam16 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (2F), unaffected parents F - - - - 0 - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) FAM20A FAM20A 2 2 Johan den Dunnen
00335344 Fam1 PubMed: Nikolopoulos 2021 family, 1 affected - - Costa Rica - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335345 Fam2 PubMed: Nikolopoulos 2021 family, 1 affected - - United Kingdom (Great Britain) - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335346 Fam3 PubMed: Nikolopoulos 2021 family, 3 affected - - United Kingdom (Great Britain) - - 0 - - AI see paper; ... MMP20 MMP20 1 3 LOVD
00335347 Fam4 PubMed: Nikolopoulos 2021 family, 1 affected - - United Kingdom (Great Britain) Pakistan - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335348 Fam5 PubMed: Nikolopoulos 2021 family, 1 affected - - United Kingdom (Great Britain) Pakistan - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335349 Fam6 PubMed: Nikolopoulos 2021 family, 3 affected - - United Kingdom (Great Britain) Pakistan - 0 - - AI see paper; ... MMP20 MMP20 1 3 LOVD
00335350 Fam7 PubMed: Nikolopoulos 2021 family, 2 affected - - United Kingdom (Great Britain) Pakistan - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335351 Fam8 PubMed: Nikolopoulos 2021 family, 2 affected - - Oman - - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335352 Fam9 PubMed: Nikolopoulos 2021 family, 1 affected - - Oman - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335353 Fam10 PubMed: Nikolopoulos 2021 family, 1 affected - - United Kingdom (Great Britain) - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335354 FamPatIII2 PubMed: Papagerakis 2008 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335355 V2.13;Pat3 PubMed: Prasad 2016, PubMed: Gasse 2017 - M - France - - 0 - - AI see paper; ... MMP20 MMP20 5 1 LOVD
00335356 Fam2 PubMed: Kim 2020 3-generation family, 1 affected, unaffected parents M no Turkey - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335357 V2.07 PubMed: Prasad 2016 - M - France - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335358 Pat1 PubMed: Gasse 2017 2-generation family, 1 affected M - France - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335359 Pat2 PubMed: Gasse 2013 2-generation family, 1 affected F no France - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335360 Pat1 PubMed: Gasse 2013 2-generation family, 1 affected F yes France - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335361 Fam2 PubMed: Kim 2017 3-generation family, 1 affected F no - - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335362 Pat4 PubMed: Gasse 2017 - M no France - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335363 Fam2 PubMed: Wang 2013 3-generation family, 1 affected M - United States - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335364 Fam1 PubMed: Kim 2020 3-generation family, mixed phenotype, 6 affected; affectedsister/brother F;M yes Turkey - - 0 - - AI see paper; ... AMELX, MMP20 MMP20 1 6 LOVD
00335365 family PubMed: Ozdemir 2005 4-generation family, affected brother/sister F;M yes Turkey - - 0 - - AI see paper; ... MMP20 MMP20 4 2 LOVD
00335366 patient PubMed: Wright 2011 - - - United States - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335367 Fam1 PubMed: Kim 2017 4-generation family, affected brother/sister F;M yes - - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335368 family PubMed: Lee 2010 4-generation family, 2 affected brothers M yes Korea - - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335369 Pat2 PubMed: Gasse 2017 2-generation family, 1 affected F - France - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335370 family PubMed: Kim 2005 3-generation family, affected father/son M - United States - - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335371 patient PubMed: Wright 2011 - - - United States - - 0 - - AI see paper; ... MMP20 MMP20 1 1 LOVD
00335373 Fam2 PubMed: Seymen 2015 5-generation family, 2 affected sisters F yes Turkey - - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335374 Fam3 PubMed: Kim 2020 3-generation family, 1 affected, unaffected parents M no Turkey - - 0 - - AI see paper; ... MMP20 MMP20 2 1 LOVD
00335375 FamPat5 PubMed: Gasse 2017 2-generation family, 2 affected sisters F - France - - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335376 FamPat6 PubMed: Gasse 2017 2-generation family, 2 affected sisters F - France - - 0 - - AI see paper; ... MMP20 MMP20 1 2 LOVD
00335377 FamPatIII1 PubMed: Kim 2020 PatIII1 F;M - - - - 0 - - AI - AMELX AMELX, MMP20 2 1 Johan den Dunnen
00378073 - Author 2021, submitted Brachyolmia with amelogenesis imperfecta M yes Peru - - - - - AI, BCYM short stature, short trunk, scoliosis, lordosis, facial dysmorphisms, lower limbs diplegia, platyspondly - LTBP3 1 1 Valentina Imperatore
Legend   How to query